Roadmap Epigenomics

Atlas of human epigenomes mapping regulatory elements across multiple cell types.

Key Info

• URL: https://epigenomesportal.ca/
• Category: Regulatory
• API: Yes
• Free: Free
• ACMG Relevance: PP3
• Link Status: Unchecked

Why It Matters

Enables researchers to determine if a variant disrupts a key regulatory element specific to a particular developmental lineage.

STRC Research Usage

Not yet tested on E1659A.

Next Steps

• Verify URL accessibility
• Test with STRC E1659A variant if applicable
• Document specific results

Connections

• STRC Variant c.4976A>C — Misha [see-also]
• STRC Gene [about]